A23S (p.Ala23Ser) variant of SCN8A (Q9UQD0)
A23S (p.Ala23Ser) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs2540119153
- ClinGen CA385227564
- ClinVar RCV002369485
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- ESM-1b 0.64
- AlphaMissense 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)